Variant report

Variant	rs231029
Chromosome Location	chr17:15155417-15155418
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr17:15155280-15155430	AoAF	blood vessel:	n/a	n/a
2	CTCF	chr17:15155280-15155430	NHEK	skin:	n/a	n/a

Variant related genes	Relation type
MIR4731	TF binding region

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs230911	0.80[CEU][hapmap]
rs231018	0.87[CEU][hapmap];0.89[EUR][1000 genomes]
rs231020	0.91[CEU][hapmap];0.94[EUR][1000 genomes]
rs231023	0.95[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs231025	0.96[CEU][hapmap];0.96[EUR][1000 genomes]
rs231027	0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs231028	0.96[CEU][hapmap];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs231030	0.95[CEU][hapmap];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs55568	0.87[CEU][hapmap];0.88[EUR][1000 genomes]
rs66507245	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1066329	chr17:14983674-15294071	Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
2	nsv543212	chr17:14983674-15294071	Active TSS Genic enhancers Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
3	nsv492304	chr17:15043353-15611753	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
4	nsv916652	chr17:15093600-15856310	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
5	nsv530760	chr17:15152791-15162532	Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island Chromatin interactive region miRNA	4 gene(s)	inside rSNPs	diseases
6	nsv427990	chr17:15154329-15434020	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:15132200-15158800	Weak transcription	Hela-S3	cervix
2	chr17:15135800-15160200	Weak transcription	Pancreas	Pancrea
3	chr17:15137200-15158000	Weak transcription	Stomach Mucosa	stomach
4	chr17:15139800-15160200	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr17:15142600-15159000	Weak transcription	Fetal Kidney	kidney
6	chr17:15142600-15159000	Weak transcription	NH-A	brain
7	chr17:15142800-15159200	Weak transcription	Fetal Brain Male	brain
8	chr17:15143000-15156800	Weak transcription	Gastric	stomach
9	chr17:15146800-15160400	Strong transcription	A549	lung
10	chr17:15148000-15159000	Genic enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr17:15148200-15159000	Strong transcription	Fetal Muscle Trunk	muscle
12	chr17:15148200-15160400	Strong transcription	Fetal Stomach	stomach
13	chr17:15148400-15158000	Genic enhancers	Left Ventricle	heart
14	chr17:15149800-15160200	Genic enhancers	Brain Hippocampus Middle	brain
15	chr17:15150600-15156000	Genic enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr17:15150800-15157400	Genic enhancers	Duodenum Smooth Muscle	Duodenum
17	chr17:15150800-15159400	Genic enhancers	Brain Cingulate Gyrus	brain
18	chr17:15150800-15160200	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr17:15150800-15160200	Genic enhancers	Adipose Nuclei	Adipose
20	chr17:15151000-15160000	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr17:15151200-15159200	Genic enhancers	Brain Anterior Caudate	brain
22	chr17:15151400-15158000	Genic enhancers	Skeletal Muscle Female	skeletal muscle
23	chr17:15151400-15160000	Strong transcription	HUVEC	blood vessel
24	chr17:15151400-15160000	Weak transcription	K562	blood
25	chr17:15151400-15160200	Strong transcription	HSMM	muscle
26	chr17:15151400-15160200	Genic enhancers	NHDF-Ad	bronchial
27	chr17:15151600-15159000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr17:15151600-15159200	Strong transcription	NHLF	lung
29	chr17:15151800-15156000	Weak transcription	Duodenum Mucosa	Duodenum
30	chr17:15151800-15158800	Strong transcription	Osteobl	bone
31	chr17:15151800-15159000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr17:15151800-15159400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr17:15151800-15160400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr17:15152000-15160200	Genic enhancers	Colon Smooth Muscle	Colon
35	chr17:15152200-15158800	Weak transcription	HMEC	breast
36	chr17:15152200-15160400	Strong transcription	Fetal Intestine Large	intestine
37	chr17:15152600-15158000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr17:15152600-15158000	Strong transcription	Lung	lung
39	chr17:15153000-15156800	Weak transcription	Colonic Mucosa	Colon
40	chr17:15153200-15159000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr17:15153400-15156400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr17:15153400-15159200	Strong transcription	Aorta	Aorta
43	chr17:15153600-15157800	Genic enhancers	Brain Substantia Nigra	brain
44	chr17:15153600-15158800	Genic enhancers	Stomach Smooth Muscle	stomach
45	chr17:15153600-15159000	Strong transcription	Muscle Satellite Cultured Cells	--
46	chr17:15153800-15157600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr17:15153800-15160200	Genic enhancers	Skeletal Muscle Male	skeletal muscle
48	chr17:15154000-15155800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
49	chr17:15154000-15156400	Genic enhancers	Right Ventricle	heart
50	chr17:15154000-15157800	Genic enhancers	Brain Inferior Temporal Lobe	brain

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